Publications:

---

Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics

Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S

Publication Date: 2022

Variant appearance in text: NF1: 288+2025T>G

PubMed Link: 35754842

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

View BVdb publication page

---

Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.

Molecular Therapy. Nucleic Acids

Leier, André A; Moore, Marc M; Liu, Hui H; Daniel, Michael M; Hyde, Alexis M AM; Messiaen, Ludwine L; Korf, Bruce R BR; Selvakumaran, Jamuna J; Ciszewski, Lukasz L; Lambert, Laura L; Foote, Jeremy J; Wallace, Margaret R MR; Kesterson, Robert A RA; Dickson, George G; Popplewell, Linda L; Wallis, Deeann D

Publication Date: 2022-06-14

Variant appearance in text: NF1: 288+2025T>G

PubMed Link: 35433111

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page

---

Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C.

Journal Of Personalized Medicine

Awad, Elias K EK; Moore, Marc M; Liu, Hui H; Ciszewski, Lukasz L; Lambert, Laura L; Korf, Bruce R BR; Popplewell, Linda L; Kesterson, Robert A RA; Wallis, Deeann D

Publication Date: 2021-12-07

Variant appearance in text: NF1: 288+2025T>G

PubMed Link: 34945792

Variant Present in the following documents:

• Main text
• jpm-11-01320.pdf

View BVdb publication page

---

Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C.

Journal Of Personalized Medicine

Awad, Elias K EK; Moore, Marc M; Liu, Hui H; Ciszewski, Lukasz L; Lambert, Laura L; Korf, Bruce R BR; Popplewell, Linda L; Kesterson, Robert A RA; Wallis, Deeann D

Publication Date: 2021-12-07

Variant appearance in text: NF1: 288+2025T>G

PubMed Link: 34945792

Variant Present in the following documents:

• Main text
• jpm-11-01320.pdf

View BVdb publication page

---

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Orphanet Journal Of Rare Diseases

Scocchia, Alicia A; Kangas-Kontio, Tiia T; Irving, Melita M; Hero, Matti M; Saarinen, Inka I; Pelttari, Liisa L; Gall, Kimberly K; Valo, Satu S; Huusko, Johanna M JM; Tallila, Jonna J; Sistonen, Johanna J; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP

Publication Date: 2021-10-09

Variant appearance in text: NF1: 288+2025T>G

PubMed Link: 34627339

Variant Present in the following documents:

• 13023_2021_2025_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

---

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Orphanet Journal Of Rare Diseases

Scocchia, Alicia A; Kangas-Kontio, Tiia T; Irving, Melita M; Hero, Matti M; Saarinen, Inka I; Pelttari, Liisa L; Gall, Kimberly K; Valo, Satu S; Huusko, Johanna M JM; Tallila, Jonna J; Sistonen, Johanna J; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP

Publication Date: 2021-10-09

Variant appearance in text: NF1: 288+2025T>G

PubMed Link: 34627339

Variant Present in the following documents:

• 13023_2021_2025_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

---

Mutation-Directed Therapeutics for Neurofibromatosis Type I.

Molecular Therapy. Nucleic Acids

Leier, Andre A; Bedwell, David M DM; Chen, Ann T AT; Dickson, George G; Keeling, Kim M KM; Kesterson, Robert A RA; Korf, Bruce R BR; Marquez Lago, Tatiana T TT; Müller, Ulrich F UF; Popplewell, Linda L; Zhou, Jiangbing J; Wallis, Deeann D

Publication Date: 2020-06-05

Variant appearance in text: NF1: 288+2025T>G

PubMed Link: 32408052

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Plos One

Kim, Borahm B; Lee, Hyeonah H; Jang, Jieun J; Kim, Soo-Jeong SJ; Lee, Seung-Tae ST; Cheong, June-Won JW; Lyu, Chuhl Joo CJ; Min, Yoo Hong YH; Choi, Jong Rak JR

Publication Date: 2019

Variant appearance in text: NF1: 288+2025T>G

PubMed Link: 30840646

Variant Present in the following documents:

• pone.0212228.s002.pdf

View BVdb publication page

---

Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.

Nucleic Acid Therapeutics

Siva, Kavitha K; Covello, Giuseppina G; Denti, Michela A MA

Publication Date: 2014-02

Variant appearance in text: NF1: 288+2025T>G

PubMed Link: 24506781

Variant Present in the following documents:

• Main text

View BVdb publication page

---